Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.T58A

RNF43

722 papers

RefSeq Summary

The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This...

Pfam Domains

ZNRF_3_ectoaa 85–189UCSCZNRF-3 Ectodomain
zf-RING_2aa 270–313UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 43

HGNC Alias Symbols

FLJ20315; RNF124; DKFZp781H0392; URCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017763.6
p.T58A
c.172A>G
Surrounding Variants
5 papers
NM_017763.6
p.T58S
c.172A>T
1 paper
NM_017763.6
p.G59*
c.175G>T
1 paper
NM_017763.6
p.D56G
c.167A>G
2 papers
NM_017763.6
p.D56H
c.166G>C
1 paper
NM_017763.6
p.K60fs
c.178_179fs
2 papers
NM_017763.6
p.L61fs
c.181_182fs
1 paper
NM_017763.6
p.I47_M55Fs
c.139_163delinsGCTGTTCTTFs
2 papers
NM_017763.6
p.L61fs
c.181_182fs
1 paper
NM_017763.6
p.L61L
c.183G>A
1 paper
NM_017763.6
p.K54*
c.160A>T
4 papers
NM_017763.6
p.L61delFs
c.182_183delCA
1 paper
NM_017763.6
p.L53F
c.159G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."